Navigation Links
Newborn Screening Ontario Inks Deal with Tute Genomics, UNIConnect Team to Deliver Informatics Infrastructure for NGS Testing
Date:3/22/2016

OTTAWA, Ontario, PROVO and SANDY, Utah, March 22, 2016 /PRNewswire/ -- Newborn Screening Ontario (NSO), which operates the highest sample volume laboratory in Canada for molecular testing, and Tute Genomics and UNIConnect, leaders in clinical sequencing informatics and molecular laboratory process management technology respectively, today announced the launch of a project to establish the informatics infrastructure for NSO's new next-generation sequencing (NGS) testing panel.

NSO has been contracted by the Ontario Ministry of Health and Long Term Care to offer an NGS panel and a multiple ligation-dependent probe amplification assay for the diagnostic confirmation of a variety of disorders. The move is the latest in a series of provincial repatriation efforts aimed at increasing genetic testing capacity and lowering costs for tests currently being performed largely out of country.  

Dr. Dennis Bulman, senior molecular scientist at NSO, is leading the development of these new tests. "This partnership will expand our ability to deliver high quality results and will expand access to the latest genetic testing technology for children and adults within the province of Ontario. Our ability to offer 'in-province' testing allows for more timely diagnosis and treatment for these rare diseases."

New NGS Panels to Confirm Diagnoses of Rare but Treatable Conditions
NSO's first NGS panel covers 412 nuclear encoded genes associated with various forms of mitochondrial disease. A second panel covers 51 genes responsible for 22 primary and 16 secondary inborn errors of metabolism (IEM), congenital adrenal hyperplasia (CAH) and 20 genes responsible for 80-90% of severe combined immunodeficiency (SCID). Future development may also include a panel to sequence CFTR directly from blood spots.

The initial aim of NGS panels in the NSO laboratory is to prove clinical utility by offering confirmatory diagnostic testing for the subset of newborns that screen positive using traditional biochemical testing. Once the clinical utility of the NGS panels is confirmed, NSO hopes to expand diagnostic testing to all newborns who screen positive, and in the future may explore the possibility of NGS as a screening test for all ~145,000 babies born annually in Ontario.

"The long-term goal of our program is to be able to merge the power of NGS technologies with that of mass spectrometry to provide a comprehensive high throughput newborn screening facility," says Dr. Bulman.  

Tute Genomic Commissioned to Deliver Scalable Informatics Solution
In order to deliver these services at scale, Tute Genomics will deploy its cloud-based informatics and genome interpretation platform in conjunction with partner UNIConnect's Precision Molecular Diagnostics (pMDx) laboratory information management system.

The combined solution will be used by NSO to manage bioinformatics "pipelines" in support of all NGS data generated, enabling the organization to efficiently get from raw sequencing data to accurate and timely identification of clinically actionable variants and report generation. Specifically, a number of key analytical steps will be supported, including quality assessment, sequence read alignment, variant identification, variant annotation and visualization, as well as data management and storage of multiple file types produced by next generation sequencers.  

"At Tute, our compassion runs deep for our most vulnerable," affirmed Dr. Reid Robison, CEO of Tute Genomics. "We continue to witness firsthand how children suffering from genetic illness struggle to get the answers they need. We are excited to support Newborn Screening Ontario with the genomic medicine infrastructure to improve the lives of patients in Ontario."

Additional terms and conditions of the agreement were not disclosed.

About NSO
Newborn Screening Ontario (NSO) is located at the Children's Hospital of Eastern Ontario (CHEO) and operates the screening program for the province of Ontario, in addition to related diagnostic and monitoring testing for rare disease.  NSO has tested over one million newborns for serious but treatable rare diseases. Since NSO started at CHEO in 2006, over 1250 newborn babies with these diseases have been diagnosed through newborn screening. NSO is the most comprehensive newborn screening program in Canada, and is one of the largest and most modern programs in the world.  www.newbornscreening.on.ca

CHEO is a pediatric health and research center providing outstanding family-centered patient care, pioneering breakthrough research, and training the health care professionals of tomorrow. www.cheo.on.ca

About Tute Genomics
At Tute Genomics, we envision a world where every child and every patient who requires a genetic diagnosis receives one, in time for it to make a difference. From faster, more accurate laboratory results to better clinical decision making, we work collaboratively with our industry leading hospital and diagnostic clients to implement the most integrative and cost-effective infrastructure of cloud-computing, sequencing informatics, genome interpretation and clinical workflow management technology. The results are scalable genomic medicine programs that dramatically improve the efficiency in which patients are diagnosed and cared for. To learn more please visit www.tutegenomics.com and follow us on twitter @TuteGenomics.

About UNIConnect
UNIConnect supports the science and business of personalized medicine by delivering laboratory process management solutions for molecular laboratories and their organizations. The company's technology adapts to rapid change, whether through scientific, regulatory or reimbursement dynamics, and the requirements of deep lab processes for the precise tracking and process detail required for molecular diagnostics, proteomics, clinical trials, etc. From the single lab to global network/enterprise, www.uniconnnect.com delivers critical capabilities that enable laboratories to achieve key objectives. www.uniconnect.com

Media Contact, NSO:
Jennifer Milburn
Operations Director
Email

Media Contact, Tute Genomics
Josh Forsythe
VP, Marketing
858-779-4363
Email

Media Contact, UNIConnect:
Rick Mandahl
VP Business Development
Email

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/newborn-screening-ontario-inks-deal-with-tute-genomics-uniconnect-team-to-deliver-informatics-infrastructure-for-ngs-testing-300239416.html


'/>"/>
SOURCE Tute Genomics
Copyright©2016 PR Newswire.
All rights reserved


Related biology news :

1. Immune system of newborn babies is stronger than previously thought
2. March of Dimes honors Arizona with first-ever newborn screening award
3. Newborn screening expansion offers early diagnosis and treatment to infants with SCID
4. Newborns genetic code sends infection distress signal
5. Protecting newborns: milk protein could save millions from harm
6. Short-term environmental enrichment exposure induces maturity of newborn neurons
7. Maternal mood disorder and newborn neurobehavior
8. Exercise during pregnancy gives newborn brain development a head start
9. UCSF receives $4.5M to study value of gene sequencing in newborns
10. NIH program explores the use of genomic sequencing in newborn healthcare
11. Discovery of the gene responsible for multiple intestinal atresia in newborns
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/15/2018)... (PRWEB) , ... November 14, 2018 , ... ... health, and quality management solutions, announced today that Prime Healthcare, a leading operator ... BPCI Advanced program requirements. , Persivia’s Bundled Payment solution consists of the ...
(Date:11/14/2018)... ... November 14, 2018 , ... In recognition of World ... raise diabetes awareness and advocacy. The company is reaching out to help educate patients ... as emphasize the importance of vision testing for people with the disease. , The ...
(Date:11/13/2018)... ... 2018 , ... Drs. Richard Amato and Michael Kang raise ... discomfort and less recovery time. Serving patients in an around Monroe and Waterbury, ... breath, this team is reaching out to the over 64 million Americans who ...
Breaking Biology News(10 mins):
(Date:11/13/2018)... , ... November 13, 2018 , ... ... Aqua® Research Water Life Science® in Grants Pass, Oregon believes in the power ... Bio-Logic Aqua® Research Water Life Science® sponsors the Power of Water® on talk ...
(Date:11/9/2018)... ... November 08, 2018 , ... IC ... a machine-learning powered approach to increasing recovery rates by creating a comprehensive contact ... Collections (AIC) product developed by NLP Logix, a Jacksonville, Florida-based AI solutions company, ...
(Date:11/7/2018)... ... 07, 2018 , ... Diversified Technologies, Inc. (DTI) has installed a ... for Algae Technology and Innovation at ASU. Funded by a USDA NIFA SBIR, the ... with algal and predator control applications. , Algae ponds get up to 50% consumed ...
(Date:11/5/2018)... ... November 05, 2018 , ... USARAD Holdings Inc., the ... and several healthcare VC firms announces at Distributed Health 2018 conference November 5-6 ... purchasing tokens and obtaining its first radiology interpretations, one of the first known ...
Breaking Biology Technology: